Canonical Allele Identifier: CA1156049840
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986490G= , CM000663.2:g.16986490G= GRCh38
NC_000001.10:g.17312985G= , CM000663.1:g.17312985G= GRCh37
NC_000001.9:g.17185572G= NCBI36
NG_009054.1:g.30439C=
NG_029688.1:g.97C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3378C= MANE Select ENSP00000327214.8:p.Leu1126=
ENST00000326735.12:c.3378C= ENSP00000327214.8:p.Leu1126=
ENST00000341676.9:c.3104-132C= ENSP00000341115.5:n.3104-132C=
ENST00000452699.5:c.3363C= ENSP00000413307.1:p.Leu1121=
ENST00000466561.1:n.1424C=
ENST00000502418.1:c.824-132C= ENSP00000423065.1:n.824-132C=
NM_001141973.2:c.3363C= NP_001135445.1:p.Leu1121=
NM_001141974.2:c.3104-132C= NP_001135446.1:n.3104-132C=
NM_022089.3:c.3378C= NP_071372.1:p.Leu1126=
XM_005245809.1:c.3236-132C= XP_005245866.1:n.3236-132C=
XM_005245810.1:c.3233-132C= XP_005245867.1:n.3233-132C=
XM_005245811.1:c.3221-132C= XP_005245868.1:n.3221-132C=
XM_005245812.1:c.3209-132C= XP_005245869.1:n.3209-132C=
XM_005245813.1:c.3176-132C= XP_005245870.1:n.3176-132C=
XM_005245815.1:c.3119-132C= XP_005245872.1:n.3119-132C=
XM_006710512.1:c.3218-132C= XP_006710575.1:n.3218-132C=
XM_006710513.1:c.3194-132C= XP_006710576.1:n.3194-132C=
XM_011541128.1:c.3221-132C= XP_011539430.1:n.3221-132C=
XM_011541129.1:c.3029-132C= XP_011539431.1:n.3029-132C=
XM_017000844.1:c.3363C= XP_016856333.1:p.Leu1121=
XM_017000845.1:c.3360C= XP_016856334.1:p.Leu1120=
XM_017000846.1:c.3336C= XP_016856335.1:p.Leu1112=
XM_017000847.1:c.3333C= XP_016856336.1:p.Leu1111=
XM_017000848.1:c.3261C= XP_016856337.1:p.Leu1087=
XM_017000849.1:c.3246C= XP_016856338.1:p.Leu1082=
XM_017000850.1:c.3171C= XP_016856339.1:p.Leu1057=
NM_022089.4:c.3378C= MANE Select NP_071372.1:p.Leu1126=
NM_001141973.3:c.3363C= NP_001135445.1:p.Leu1121=
NM_001141974.3:c.3104-132C= NP_001135446.1:n.3104-132C=